MARCHF6-DT

Chr 5

MARCHF6 divergent transcript

Also known as: PACMP

Enables poly-ADP-D-ribose binding activity. Involved in negative regulation of protein ubiquitination and positive regulation of DNA repair. Is active in nucleolus and site of DNA damage. [provided by Alliance of Genome Resources, Jul 2025]

44
ClinVar variants
41
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryMARCHF6-DT
📋
ClinVar Variants
41 Pathogenic / Likely Pathogenic· 3 VUS of 44 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

44 submitted variants in ClinVar

Classification Summary

Pathogenic41
VUS3
41
Pathogenic
3
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
41
Likely Pathogenic
0
VUS
3
Likely Benign
0
Benign
0
Total44

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MARCHF6-DT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

No OMIM entries found.